172 research outputs found
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
PURPOSE: To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation. METHODS: An institutional study of three family members from two generations. The clinical examination included best-corrected Snellen visual acuity measurement, fundoscopy, the Farnsworth D-15 color vision test, a full-field electroretinogram (ERG) that incorporated the International Society for Clinical Electrophysiology of Vision standards and methodology, fundus autofluorescence (FAF) and infrared (IR), and spectral-domain optical coherence tomography (SD-OCT). Genetic findings were achieved with DNA analysis using whole exome sequencing (WES) and Sanger sequencing. RESULTS: The proband, a 9-year-old boy, presented with a condition that appeared to be congenital and stationary. The clinical presentation initially reflected incomplete congenital stationary night blindness (icCSNB) because of myopia, a decrease in visual acuity, abnormal oscillatory potentials, and reduced amplitudes on the 30 Hz flicker ERG but was atypical because there were no clear electronegative responses. However, no disease-causing mutations in the genes underlying icCSNB were identified. Following WES analysis of family members, a homozygous splice-site mutation in intron 3 of TTLL5 (c.182-3_182-1delinsAA) was found cosegregating within the phenotype in the family. CONCLUSIONS: The distinction between icCSNB and CD phenotypes is not always straightforward in young patients. The patient was quite young, which most likely explains why the progression of the CD was not obvious. WES analysis provided prompt diagnosis for this family; thus, the use of this technique to refine the diagnosis is highlighted in this study
The HADES Tracking System
The tracking system of the dielectron spectrometer HADES at GSI Darmstadt is
formed out of 24 low-mass, trapezoidal multi-layer drift chambers providing in
total about 30 square meter of active area. Low multiple scattering in the in
total four planes of drift chambers before and after the magnetic field is
ensured by using helium-based gas mixtures and aluminum cathode and field
wires. First in-beam performance results are contrasted with expectations from
simulations. Emphasis is placed on the energy loss information, exploring its
relevance regarding track recognition.Comment: 6 pages, 4 figures, presented at the 10th Vienna Conference on
Instrumentation, Vienna, February 2004, to be published in NIM A (special
issue
Production of Sigma{\pm}pi?pK+ in p+p reactions at 3.5 GeV beam energy
We study the production of Sigma^+-pi^+-pK^+ particle quartets in p+p
reactions at 3.5 GeV kinetic beam energy. The data were taken with the HADES
experiment at GSI. This report evaluates the contribution of resonances like
Lambda(1405$, Sigma(1385)^0, Lambda(1520), Delta(1232), N^* and K^*0 to the
Sigma^+- pi^-+ p K+ final state. The resulting simulation model is compared to
the experimental data in several angular distributions and it shows itself as
suitable to evaluate the acceptance corrections properly.Comment: 15 pages, 5 figure
Inclusive dielectron production in proton-proton collisions at 2.2 GeV beam energy
Data on inclusive dielectron production are presented for the reaction p+p at
2.2 GeV measured with the High Acceptance DiElectron Spectrometer (HADES). Our
results supplement data obtained earlier in this bombarding energy regime by
DLS and HADES. The comparison with the 2.09 GeV DLS data is discussed. The
reconstructed e+e- distributions are confronted with simulated pair cocktails,
revealing an excess yield at invariant masses around 0.5 GeV/c2. Inclusive
cross sections of neutral pion and eta production are obtained
An upper limit on hypertriton production in collisions of Ar(1.76 AGeV)+KCl
A high-statistic data sample of Ar(1.76 AGeV)+KCl events recorded with HADES
is used to search for a hypertriton signal. An upper production limit per
centrality-triggered event of x on the level is
derived. Comparing this value with the number of successfully reconstructed
hyperons allows to determine an upper limit on the ratio
, which is confronted with statistical and
coalescence-type model calculations
Partial Wave Analysis of the Reaction to Search for the "" Bound State
Employing the Bonn-Gatchina partial wave analysis framework (PWA), we have
analyzed HADES data of the reaction . This
reaction might contain information about the kaonic cluster "" via its
decay into . Due to interference effects in our coherent description
of the data, a hypothetical (or, specifically "")
cluster signal must not necessarily show up as a pronounced feature (e.g. a
peak) in an invariant mass spectra like . Our PWA analysis includes a
variety of resonant and non-resonant intermediate states and delivers a good
description of our data (various angular distributions and two-hadron invariant
mass spectra) without a contribution of a cluster. At a
confidence level of CL=95\% such a cluster can not contribute more than
2-12\% to the total cross section with a final state, which
translates into a production cross-section between 0.7 and 4.2 ,
respectively. The range of the upper limit depends on the assumed cluster mass,
width and production process.Comment: 7 Pages, 5 Figure
Study of the quasi-free reaction with a deuterium beam at 1.25 GeV/nucleon
The tagged quasi-free reaction has been studied
experimentally with the High Acceptance Di-Electron Spectrometer (HADES) at GSI
at a deuteron incident beam energy of 1.25 GeV/nucleon ( 2.42
GeV/c for the quasi-free collision). For the first time, differential
distributions for production in collisions have been
collected in the region corresponding to the large transverse momenta of the
secondary particles. The invariant mass and angular distributions for the
reaction are compared with different models.
This comparison confirms the dominance of the -channel with
contribution. It also validates the changes previously introduced in the
Valencia model to describe two-pion production data in other isospin channels,
although some deviations are observed, especially for the
invariant mass spectrum. The extracted total cross section is also in much
better agreement with this model. Our new measurement puts useful constraints
for the existence of the conjectured dibaryon resonance at mass M 2.38
GeV and with width 70 MeV
Deep sub-threshold production in Ar+KCl reactions at 1.76A GeV
We report first results on a deep sub-threshold production of the doubly
strange hyperon in a heavy-ion reaction. At a beam energy of 1.76A GeV
the reaction Ar+KCl was studied with the High Acceptance Di-Electron
Spectrometer (HADES) at SIS18/GSI. A high-statistics and high-purity
sample was collected, allowing for the investigation of the decay channel
. The deduced production
ratio of is significantly larger
than available model predictions.Comment: 4 pages, including 4 figure
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